Asset Lifecycle Manage
  • Down syndrome(trisomy 21)

  • Edward syndrome(trisomy 18)

  • Patau syndrome(trisomy 13)

  • Turner syndrome(45, X)

  • Klinefelter Syndrome(47, XXY)

  • Jacob syndrome(47, XYY)

  • Triple X syndrome(47, XXX)

Newborn Incidence
  • 1/700

  • 1/3500-1/8000

  • 1/25000

  • 1/2500 (female)

  • 1/500-1/1000(male)

  • 1/1000 (male)

  • 1/1000 (male)

Clinical Disease Phenotype
  • Characteristic facial features, Multiple malformations, growth retardation, mental retardation
  • Congenital heart disease, multiple organ abnormalities, growth retardation. Most fetuses die in utero, 40% die within the first month, 5% live past their first year and only 1% live beyond 10 years
  • Most fetuses (> 95%) die in utero. More than half the newborns have severe facial abnormalities combined with congenital heart disease and die within six months
  • Short stature, abnormal sexual development, lower level of intelligence
  • Elevated height, smaller bilateral testes, breast enlargement, infertility or sexual dysfunction, lower level of intelligence
  • Subfertility, learning disabilities and delayed development of speech, language skills and motor skills (sitting and walking), weak muscle tone, hand tremors and some involuntary movements
  • Slightly altered body appearance. Exhibit learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking) and weak muscle tone

It is recommended that no irreversible clinical decisions be made based on these screening results alone. The non-invasive screening test has much greater sensitivity and specificity than serum marker screening.

Professional society's recommend prenatal screening to be offered to every women early in pregnancy, regardless of maternal age or risk factors. Pregnancies achieved through assisted reproductive technologies (ART) or in-vitro fertilization (IVF) can also benefit from a prenatal NIPT screen.

Asset Lifecycle Manage
  • 22q 11.2 deletion syndrome (DiGeorge)Down syndrome(trisomy 21)

  • 1 p 36 deletion syndrome

  • 2q33.1 deletion syndrome

  • Cri-Du-Chat syndrome (5p deletion)

  • Langer-Giedion syndrome (8q23-24 deletion)

  • Angelman syndrome
  • (15q11-13 maternal deletion)

  • Prader-Willi syndrome (15q 11-13 paternal deletion)
Newborn Incidence
  • 1/4000

  • 1/50000-1/10000

  • Rare

  • 1/20000-1/50000

  • Rare

  • 1/12000-1/20000

  • 1/10000-1/30000
Clinical Disease Phenotype
  • Distinctive facial features, heart and kidney abnormalities, immune system disorders, developmental delay in language, learning abilities, and attention deficit hyperactivity disorder
  • Distinctive facial features, vision or hearing problems, heart abnormalities, epilepsy, weak muscle tone, multiple malformations, severe speech problems, and temper tantrums
  • Characteristic facial features, epilepsy, growth retardation, severe speech problems, feeding difficulties, behavioral problems, including hyperactivity and aggression
  • Infants have a high-pitched cry that sounds like a cat. Distinctive facial features, weak muscle tone, growth retardation, behavioral problems, including hyperactivity and aggression, repeat movements
  • Sparse scalp hair, loose skin, multiple benign bone tumors, and small brain
  • Face appearance as a "happy puppet".
  • Developmental delay, intellectual disability, delayed speech, inability to walk, move or balance
  • Weak muscle tone, undeveloped genitalia, obesity, small hands and feet and short stature

Daisy leverages the power of Massively Parallel Sequencing, using a signature algorithm to target and more deeply analyze fetal chromosome material. Grounded in scientific research, Serenity NIPT has been rigorously validated using clinical outcome performance data on over 85,000 cases, and has the lowest failure rate in the field, meaning fewer sample redraws and overall faster results to you and your patients.